(Q82341539)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22052856%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

title

Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22052856%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference

1 reference

Dar-Shong Lin

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22052856%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Jui-Hsing Chang

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22052856%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Hsuan-Liang Liu

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22052856%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Chin-Hung Wei

4

1 reference

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15 January 2020

Chun-Yan Yeung

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22052856%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Che-Sheng Ho

6

1 reference

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15 January 2020

Chyong-Hsin Shu

7

1 reference

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15 January 2020

Ming-Fu Chiang

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22052856%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Chih-Kuang Chuang

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22052856%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Yu-Wen Huang

10

1 reference

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15 January 2020

Tsu-Yen Wu

11

1 reference

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15 January 2020

Yuan-Ren Jian

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22052856%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Zon-Darr Huang

13

1 reference

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15 January 2020

Shuan-Pei Lin

14

1 reference

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15 January 2020

publication date

3 November 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22052856%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

15 January 2020

published in

1 reference

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15 January 2020

volume

155A

1 reference

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15 January 2020

issue

12

1 reference

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15 January 2020

page(s)

3095-3099

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22052856%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Identifiers

DOI

10.1002/AJMG.A.34326

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22052856%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference